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Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.
Franaszczyk M, Truszkowska G, Chmielewski P, Rydzanicz M, Kosinska J, Rywik T, Biernacka A, Spiewak M, Kostrzewa G, Stepien-Wojno M, Stawinski P, Bilinska M, Krajewski P, Zielinski T, Lutynska A, Bilinska ZT, Ploski R. Franaszczyk M, et al. J Clin Med. 2020 Jan 29;9(2):370. doi: 10.3390/jcm9020370. J Clin Med. 2020. PMID: 32013205 Free PMC article.
Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts.
Płoski R, Brand OJ, Jurecka-Lubieniecka B, Franaszczyk M, Kula D, Krajewski P, Karamat MA, Simmonds MJ, Franklyn JA, Gough SC, Jarząb B, Bednarczuk T. Płoski R, et al. Among authors: franaszczyk m. PLoS One. 2010 Nov 25;5(11):e15512. doi: 10.1371/journal.pone.0015512. PLoS One. 2010. PMID: 21124799 Free PMC article.
[Familial thoracic aortic aneurysms and dissections (FTAAD)].
Milanowska B, Michalak E, Janaszek-Sitkowska H, Franaszczyk M, Płoski R, Bilińska ZT. Milanowska B, et al. Among authors: franaszczyk m. Kardiol Pol. 2011;69(12):1291-7. Kardiol Pol. 2011. PMID: 22219111 Review. Polish. No abstract available.
Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
Ploski R, Pollak A, Müller S, Franaszczyk M, Michalak E, Kosinska J, Stawinski P, Spiewak M, Seggewiss H, Bilinska ZT. Ploski R, et al. Among authors: franaszczyk m. Circ Res. 2014 Jan 17;114(2):e2-5. doi: 10.1161/CIRCRESAHA.114.302662. Circ Res. 2014. PMID: 24436435
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
Franaszczyk M, Bilinska ZT, Sobieszczańska-Małek M, Michalak E, Sleszycka J, Sioma A, Małek ŁA, Kaczmarska D, Walczak E, Włodarski P, Hutnik Ł, Milanowska B, Dzielinska Z, Religa G, Grzybowski J, Zieliński T, Ploski R. Franaszczyk M, et al. J Transl Med. 2014 Jul 9;12:192. doi: 10.1186/1479-5876-12-192. J Transl Med. 2014. PMID: 25008357 Free PMC article.
Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction.
Szpakowicz A, Kiliszek M, Pepinski W, Waszkiewicz E, Franaszczyk M, Skawronska M, Ploski R, Niemcunowicz-Janica A, Dobrzycki S, Opolski G, Musial WJ, Kaminski KA. Szpakowicz A, et al. Among authors: franaszczyk m. PLoS One. 2014 Aug 8;9(8):e104635. doi: 10.1371/journal.pone.0104635. eCollection 2014. PLoS One. 2014. PMID: 25105296 Free PMC article.
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
Truszkowska GT, Bilińska ZT, Kosińska J, Śleszycka J, Rydzanicz M, Sobieszczańska-Małek M, Franaszczyk M, Bilińska M, Stawiński P, Michalak E, Małek ŁA, Chmielewski P, Foss-Nieradko B, Machnicki MM, Stokłosa T, Ponińska J, Szumowski Ł, Grzybowski J, Piwoński J, Drygas W, Zieliński T, Płoski R. Truszkowska GT, et al. Among authors: franaszczyk m. BMC Med Genet. 2015 Apr 3;16:21. doi: 10.1186/s12881-015-0167-0. BMC Med Genet. 2015. PMID: 25928149 Free PMC article.
BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.
Kostera-Pruszczyk A, Suszek M, Płoski R, Franaszczyk M, Potulska-Chromik A, Pruszczyk P, Sadurska E, Karolczak J, Kamińska AM, Rędowicz MJ. Kostera-Pruszczyk A, et al. Among authors: franaszczyk m. J Muscle Res Cell Motil. 2015 Dec;36(6):423-32. doi: 10.1007/s10974-015-9431-3. Epub 2015 Nov 6. J Muscle Res Cell Motil. 2015. PMID: 26545904 Free PMC article.
The 9p21 polymorphism is linked with atrial fibrillation during acute phase of ST-segment elevation myocardial infarction.
Kiliszek M, Szpakowicz A, Franaszczyk M, Pepinski W, Waszkiewicz E, Skawronska M, Ploski R, Niemcunowicz-Janica A, Budnik M, Poludniewska D, Musial WJ, Kaminski KA, Opolski G. Kiliszek M, et al. Among authors: franaszczyk m. Heart Vessels. 2016 Oct;31(10):1590-4. doi: 10.1007/s00380-015-0774-x. Epub 2015 Nov 28. Heart Vessels. 2016. PMID: 26615606
41 results